Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 31546 | chr16 | 72788664 | T | TTGC |
c.9609_9611dup
|
p.Gln3204dup
|
1.5 |
|
B | ||
| 7741 | chr16 | 72788755 | G | T |
c.9521C>A
|
p.Ser3174Tyr
|
3.0 |
|
B | ||
| 6995 | chr16 | 72788844 | TA | T |
c.9431del
|
p.Leu3144Ter
|
- | 4.0 |
|
B | |
| 31417 | chr16 | 72793962 | T | C |
c.8720A>G
|
p.Asp2907Gly
|
- | 3.0 |
|
B | |
| 32239 | chr16 | 72793969 | C | A |
c.8713G>T
|
p.Glu2905Ter
|
- | 4.0 |
|
B | |
| 11865 | chr16 | 72794046 | G | A |
c.8636C>T
|
p.Ala2879Val
|
3.0 |
|
B | ||
| 6589 | chr16 | 72794100 | A | G |
c.8582T>C
|
p.Ile2861Thr
|
- | 3.0 |
|
B | |
| 32240 | chr16 | 72794112 | C | A |
c.8570G>T
|
p.Ser2857Ile
|
3.0 |
|
B | ||
| 15102 | chr16 | 72794206 | C | T |
c.8476G>A
|
p.Asp2826Asn
|
- | 3.0 |
|
B | |
| 12108 | chr16 | 72794371 | A | C |
c.8311T>G
|
p.Ser2771Ala
|
- | 3.0 |
|
B | |
| 6422 | chr16 | 72794436 | G | A |
c.8246C>T
|
p.Ala2749Val
|
3.0 |
|
B | ||
| 26828 | chr16 | 72794674 | TC | T |
c.8007del
|
p.Met2670CysfsTer11
|
- | 3.5 |
|
B | |
| 34638 | chr16 | 72794910 | C | T |
c.7772G>A
|
p.Gly2591Glu
|
- | 3.0 |
|
B | |
| 8549 | chr16 | 72795336 | T | G |
c.7346A>C
|
p.Gln2449Pro
|
- | 3.0 |
|
B | |
| 33053 | chr16 | 72795444 | G | T |
c.7238C>A
|
p.Ala2413Asp
|
- | 3.0 |
|
B | |
| 14076 | chr16 | 72795718 | G | A |
c.6964C>T
|
p.Arg2322Ter
|
- | 4.0 |
|
B | |
| 3078 | chr16 | 72795816 | C | A |
c.6866G>T
|
p.Trp2289Leu
|
- | 3.0 |
|
B | |
| 25168 | chr16 | 72795829 | C | T |
c.6853G>A
|
p.Val2285Met
|
- | 3.0 |
|
B | |
| 24459 | chr16 | 72795948 | GAAGACCTCTTGCTTCCCC | G |
c.6716_6733del
|
p.Trp2239_Ser2244del
|
- | 3.0 |
|
B | |
| 24286 | chr16 | 72796270 | G | T |
c.6412C>A
|
p.Pro2138Thr
|
3.0 |
|
B |